Detection of germline mosaicism in two Duchenne muscular dystrophy families using polymorphic dinucleotide (CA)n repeat loci within the dystrophin gene (Q80965799)

From Wikidata

Jump to navigation Jump to search

scientific article published on 01 January 2004

Language	Label	Description	Also known as
English	Detection of germline mosaicism in two Duchenne muscular dystrophy families using polymorphic dinucleotide (CA)n repeat loci within the dystrophin gene	scientific article published on 01 January 2004

Statements

scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15527326%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Detection of germline mosaicism in two Duchenne muscular dystrophy families using polymorphic dinucleotide (CA)n repeat loci within the dystrophin gene (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15527326%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Duchenne muscular dystrophy

1 reference

based on heuristic

inferred from title

author name string

Verónica Ferreiro

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15527326%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Irene Szijan

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15527326%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Florencia Giliberto

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15527326%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

publication date

1 January 2004

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15527326%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Molecular Diagnosis and Therapy

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15527326%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

8

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15527326%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15527326%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

115-121

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15527326%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

https://scigraph.springernature.com/pub.10.1007/bf03260054

0 references

Analysis of dinucleotide repeat loci of dystrophin gene for carrier detection, germline mosaicism and de novo mutations in Duchenne muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15527326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

1 reference

https://pubmed.ncbi.nlm.nih.gov/15527326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male

1 reference

https://pubmed.ncbi.nlm.nih.gov/15527326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms

1 reference

https://pubmed.ncbi.nlm.nih.gov/15527326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/15527326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15527326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An informative polymorphism detectable by polymerase chain reaction at the 3' end of the dystrophin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/15527326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods

1 reference

https://pubmed.ncbi.nlm.nih.gov/15527326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid detection of CA polymorphisms in cloned DNA: application to the 5' region of the dystrophin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/15527326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications

1 reference

https://pubmed.ncbi.nlm.nih.gov/15527326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Usefulness of a CACA repeat polymorphism in genotype assignments in Duchenne/Becker muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15527326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/15527326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The population genetics of Duchenne: natural and artificial selection in Duchenne muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15527326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A polymorphic CACA repeat in the 3' untranslated region of dystrophin.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15527326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid isolation of high molecular weight plant DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/15527326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/15527326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q80965799&oldid=1743854846"